Case Report on Wilson’s Disease
Wilson’s Disease
Keywords:
Dystonia, Kayser-Fleischer ring, Trientein hydrochloride, Wilson’s diseaseAbstract
Wilson's disease is an autosomal-recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper-transporting. The disease is mainly seen in children, adolescents and young adults, and is characterized by hepatobiliary, neurologic, psychiatric and ophthalmologic (Kayser-Fleischer rings) manifestations. The deposition of copper in tissues is the cause of virtually all the manifestations of the disease in Liver, Blood, Kidney and Brain. We present here a case study of Wilson’s disease in 12 years old children. [Basappa K et al NJIRM 2013; 4(6) :143-144]
References
1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34:295-507.
2. Scheinberg IH, Sternlieb I. Wilson’s disease. In: Smith Jr LH, editor. Major problems in internal medicine, vol. 23. Philadelphia, PA: WB Saunders; 1984. p. 25–35.
3. Gitlin JD. Wilson disease. Gastroenterology 2003; 125:1868–1877.
4. Tao TY, Gitlin JD. Hepatic copper metabolism: insights from genetic disease. Hepatology 2003; 37:1241–1247.
5. Lutsenko S, Petris MJ. Function and regulation of the mammalian copper transporting ATPases: insights from biochemical and cell biological approaches. J Membr Biol 2003; 191:1–12.
2. Scheinberg IH, Sternlieb I. Wilson’s disease. In: Smith Jr LH, editor. Major problems in internal medicine, vol. 23. Philadelphia, PA: WB Saunders; 1984. p. 25–35.
3. Gitlin JD. Wilson disease. Gastroenterology 2003; 125:1868–1877.
4. Tao TY, Gitlin JD. Hepatic copper metabolism: insights from genetic disease. Hepatology 2003; 37:1241–1247.
5. Lutsenko S, Petris MJ. Function and regulation of the mammalian copper transporting ATPases: insights from biochemical and cell biological approaches. J Membr Biol 2003; 191:1–12.
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Published
2017-12-31
How to Cite
Basappa, K., Surender, G., M.Lahkar, D. (Mrs), & Choudhury, D. U. (2017). Case Report on Wilson’s Disease: Wilson’s Disease. National Journal of Integrated Research in Medicine, 4(6), 143–144. Retrieved from http://nicpd.ac.in/ojs-/index.php/njirm/article/view/652
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Section
Case Report
